Sonia took the most important test, thank you!Verified by Tooba

Sonia took the most important test, thank you!

Bereginya

Charitable foundation · Perm region

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of RUB 42,640

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Thanks to your help, Sonya Tyulkina passed the test and visited genetics!

A genetic study for complete exome sequencing helped to diagnose the baby. She had a genetic disorder. Now Sonya has been diagnosed with a very rare diagnosis - Rett syndrome. This genetic disorder occurs exclusively in girls.

Unfortunately, it cannot be cured, but people with this diagnosis can live to old age. Slowly, the girl's mother will instill skills in her and work with her daughter to the best of her ability.

Thanks for helping Sonya!

About the campaign

Four-year-old Sonya needs genetic analysis to find the right treatment

Little Sonya has autism and delayed psycho-speech development

Sofia is a long-awaited first daughter. The baby was born on time, and she developed as a normal child until the age of two: she actively learned the world, played and even said her first words. Just after her second birthday, something happened that no one could have imagined. Like a thunder from out of the blue, there was a sharp regression in development: Sonya stopped taking a spoon in her hands, she stopped contacting her mother, didn't even come up to her relatives, and just walked around the apartment as if no one was there except Sonya herself. Later, this aloof behavior was supplemented by horrible tantrums. The girl's parents sounded the alarm, and her psychiatrist referred her to a neuropsychiatric hospital, where she was diagnosed with autism. However, the doctors were not sure that the girl had autism, but even if the diagnosis was correct, it was necessary to determine the origin of the disorder in order to prescribe the correct and appropriate treatment. To do this, Sophia needs a genetic test for complete exome sequencing. After the in-patient treatment we administered to Sonya, there is a little positive dynamics in Sofia's life: she hugs her mother sometimes, she is less fussy and watches cartoons. However, the girl is still not interested in playing with other children, she ignores toys and does not notice people around her. Help Sonyechka and her mother find out what's going on with the little girl. The family really misses their affectionate and smiling daughter, and dreams that Sonya will start playing with her peers, find friends, and remember her once favorite dolls.

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Who is collecting

Bereginya

Charitable foundation · Perm region

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